Variant report

Variant	rs13250998
Chromosome Location	chr8:103342258-103342259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103335858..103340204-chr8:103341217..103345311,4	MCF-7	breast:
2	chr8:103342144..103347475-chr8:103421612..103426847,6	MCF-7	breast:
3	chr8:103314029..103316192-chr8:103341208..103343190,2	MCF-7	breast:
4	chr8:103341661..103343308-chr8:103345011..103347065,2	K562	blood:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10505020	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10955287	1.00[AFR][1000 genomes]
rs12707772	0.93[CEU][hapmap]
rs13248603	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13249865	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs13259151	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13261528	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262662	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13263132	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13269311	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13270908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13278798	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13278875	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869130	1.00[ASN][1000 genomes]
rs16869132	1.00[ASN][1000 genomes]
rs2061299	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs28927991	0.90[EUR][1000 genomes]
rs28999669	0.89[EUR][1000 genomes]
rs34270914	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34278087	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34279135	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34297513	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34351006	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34356268	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34730203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34976508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35166521	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35316247	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35558370	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35873559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35969173	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35980679	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36178006	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3899035	1.00[ASN][1000 genomes]
rs4483125	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003023	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59572423	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71518852	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71518861	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72681127	1.00[ASN][1000 genomes]
rs72681128	1.00[ASN][1000 genomes]
rs72681129	1.00[ASN][1000 genomes]
rs72681131	1.00[ASN][1000 genomes]
rs72681134	1.00[ASN][1000 genomes]
rs72681136	1.00[ASN][1000 genomes]
rs72681138	1.00[ASN][1000 genomes]
rs7845877	0.88[EUR][1000 genomes]
rs9650000	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9650001	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9650002	1.00[CEU][hapmap];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103300200-103342800	Weak transcription	Stomach Mucosa	stomach
2	chr8:103300200-103343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:103319400-103343400	Weak transcription	Small Intestine	intestine
4	chr8:103324600-103343600	Weak transcription	Fetal Brain Male	brain
5	chr8:103325600-103358200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:103326000-103354000	Weak transcription	Lung	lung
7	chr8:103330000-103346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:103330000-103375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:103335000-103345400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:103335200-103345400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:103335400-103342400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:103335400-103342600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:103335400-103342800	Strong transcription	Liver	Liver
14	chr8:103335400-103343200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:103335400-103343200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:103335400-103343200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:103335400-103343400	Strong transcription	HSMM	muscle
18	chr8:103335400-103343600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:103335400-103343600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:103335400-103343800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:103335400-103343800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:103335400-103343800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:103335400-103344400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:103335400-103344600	Strong transcription	Fetal Intestine Large	intestine
25	chr8:103335400-103344800	Strong transcription	Placenta	Placenta
26	chr8:103335400-103345000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:103335400-103345000	Strong transcription	Fetal Muscle Leg	muscle
28	chr8:103335400-103345200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:103335400-103345200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:103335400-103345200	Strong transcription	Adipose Nuclei	Adipose
31	chr8:103335400-103345200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr8:103335400-103345400	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr8:103335400-103345400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:103335400-103346400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr8:103335400-103346600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr8:103335400-103346600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:103335400-103347000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:103335400-103351200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr8:103335400-103355000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:103335400-103360000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:103335400-103361200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:103335400-103361400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:103335400-103363400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr8:103335400-103363800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:103335400-103373200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr8:103335400-103373400	Strong transcription	Fetal Thymus	thymus
47	chr8:103335400-103373600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:103335600-103342400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:103335600-103344000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:103335800-103343800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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